A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213201



Internal ID17729076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181062739..181063239hg38UCSC Ensembl
Innerchr2:181927466..181927966hg19UCSC Ensembl
Innerchr2:181635711..181636211hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979154
Supporting Variants
SamplesHGDP00456
Known GenesUBE2E3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2213201
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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